지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 17 - 19 (3page)
이용수
초록· 키워드
오류제보하기
Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Phornphutkul C / 2002 / Natural history of alkaptonuria / N Engl J Med 347:2111~2121
Al Essa M / 1998 / Alkaptonuria: case report and review of the literature / Ann Saudi Med 18:442~444
Anikster Y / 1998 / NTBC and alkaptonuria / Am J Hum Genet 63:920~921
Li H / 2015 / Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with alkaptonuria / J Pediatr Endocrinol Metab 28:453~456
Braconi D / 2015 / Oxidative stress and mechanisms of ochronosis in alkaptonuria / Free Radic Biol Med 88:70~80
Al Essa M / 1998 / Alkaptonuria: case report and review of the literature / Ann Saudi Med 18:442~444
Anikster Y / 1998 / NTBC and alkaptonuria / Am J Hum Genet 63:920~921
Li H / 2015 / Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with alkaptonuria / J Pediatr Endocrinol Metab 28:453~456
Braconi D / 2015 / Oxidative stress and mechanisms of ochronosis in alkaptonuria / Free Radic Biol Med 88:70~80
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Comparative accuracy of four guidelines to predict high-grade dysplasia or malignancy in surgically resected pancreatic intraductal papillary mucinous neoplasms: Small nuances between guidelines lead to vastly different results
Annals of Hepato-Biliary-Pancreatic Surgery
2024 .11
-
치과 의사가 알아야 할 희귀 질환: Part 1. 희귀질환제도와 치과에 내원하는 희귀질환
대한치과의사협회지
2025 .03
-
Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
Journal of Retina
2019 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Establishment of a registry of clinical data and bioresources for rare nervous system diseases
Osong Public Health and Research Persptectives
2024 .04
-
Disease modeling of rare neurological disorders in zebrafish
한국실험동물학회 학술발표대회 논문집
2022 .07
-
Altered Expression of Oxidative Metabolism Related Genes in Cholangiocarcinomas
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
-
Enzyme Replacement Therapy for Lysosomal Storage Disease in Indonesia
Journal of mucopolysaccharidosis and rare disease
2018 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Clinical and Experimental Pediatrics
2019 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
Journal of genetic medicine
2017 .01
-
Acid-suppressive Medications and Risk of Esophageal Adenocarcinoma in Patients With Barrett’s Esophagus
Journal of Neurogastroenterology and Motility (JNM)
2015 .01
-
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
Pediatric Gastroenterology, Hepatology & Nutrition
2018 .01
-
Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey
Journal of Pathology and Translational Medicine
2015 .01
-
Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis
대한의생명과학회지
2021 .06
이 논문의 저자 정보
최근 본 자료
댓글(0)
0